KIZ kizuna centrosomal protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIZprovided by HGNC
Official Full Name: kizuna centrosomal proteinprovided by HGNC
Primary source: HGNC:HGNC:15865
See related: Ensembl:ENSG00000088970 MIM:615757; AllianceGenome:HGNC:15865
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RP69; HT013; Kizuna; PLK1S1; C20orf19; NCRNA00153
Summary: The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Expression: Broad expression in testis (RPKM 20.1), ovary (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (21125975..21246622)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (21186759..21305970)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (21106616..21227260)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.
Title: Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.
Long noncoding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA653 and altering CXC chemokine receptor 5 expression.
Title: Long non‑coding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA‑653 and altering C‑X‑C chemokine receptor 5 expression.
Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
Title: Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
Kiz phosphorylation depends on a balance between CDC25B and Plk1 activities.
Title: Kizuna is a novel mitotic substrate for CDC25B phosphatase.
Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD
Title: Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Retinitis pigmentosa 69 MedGen: C4014312 OMIM: 615780 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AB060251 (e-PCR)
- UniSTS:480123

RH118919 (e-PCR)
- UniSTS:138911

STS-T79955 (e-PCR)
- UniSTS:7113

RH66519 (e-PCR)
- UniSTS:79059

Z94688 (e-PCR)
- UniSTS:69088

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in spindle organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centrosomal protein kizuna

Names: polo-like kinase 1 substrate 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.